Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1849265 Overgrowth phenotype Finding Growth abnormality 81 93
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 18 21
C0040822 Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 16 21
C0013595 Eczema disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 15 18
C0004106 Astigmatism disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 14
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 14 11
C0018916 Hemangioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the cardiovascular system 12 15
C0027066 Myoclonus phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 12 13
C0162834 Hyperpigmentation phenotype Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 11 11
C0542514 Blue sclera phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding Abnormality of the eye 9 13
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 9 9
C0235752 Port-Wine Stain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 8 8
C0023221 Leg Length Inequality phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Growth abnormality 6 6
C1837098 Easy fatigability phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 5 5
C0234629 Abnormal color vision phenotype Finding Abnormality of the eye 5 5
C0041834 Erythema phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument; Abnormality of the cardiovascular system 5 4
C0232462 Decrease in appetite phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom Abnormality of the digestive system 4 5
C2937220 Congenital abnormality of vein group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 3 4
C1851789 Poor wound healing phenotype Finding Abnormality of the integument 3 3
C1837785 Prominent superficial veins phenotype Finding Abnormality of the integument; Abnormality of the cardiovascular system 3 3
C0005741 Blepharitis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye 3 3
C0007933 Meibomian Cyst disease Neoplasms; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 2 3
C4073245 Abnormality of neck blood vessel disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the cardiovascular system 2 2